| Autor: |
Hayashida MT; Hospital Heliopólis, São Paulo, SP, Brazil., Mitsui GL; Hospital Heliopólis, São Paulo, SP, Brazil., Reis NI; Hospital Heliopólis, São Paulo, SP, Brazil., Fantinato G; Hospital Heliopólis, São Paulo, SP, Brazil., Jordão Neto D; Hospital Heliopólis, São Paulo, SP, Brazil., Mercante AM; Hospital Heliopólis, São Paulo, SP, Brazil. |
| Jazyk: |
angličtina |
| Zdroj: |
Anais brasileiros de dermatologia [An Bras Dermatol] 2015 Nov-Dec; Vol. 90 (6), pp. 888-91. |
| DOI: |
10.1590/abd1806-4841.20153966 |
| Abstrakt: |
Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1:100.000 to 1:300.000, with autosomal dominant inheritance. We report the case of a 5 year old girl who presented an hypertrophic verrucous plaques in the neck, under arm, buttocks, knees, pelvis, legs, dorsum of the right foot and elbows. Histological examination of the skin lesions showed typical changes of epidermolytic hyperkeratosis. Because it is an autosomal dominant disorder with complete penetrance, the individual carrying the mutation will necessarily develop the disease. However, in 50% of cases postzygotic mutation occur. The case report emphasizes early diagnosis and differential diagnoses with ichthyosis and other bullous diseases of childhood, as well as discussing the therapeutic possibilities. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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